QuyenAnhDE/medical huggingface dataset:
recombinase activating gene 1 deficiency
Definition: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
recombinase activating gene 2 deficiency
Definition: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.
gamma chain deficiency
Definition: A severe combined immunodeficiency that is a X-linked SCID caused by mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells.
Synonyms: XSCID
CD45 deficiency
Definition: A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age.
interleukin-7 receptor alpha deficiency
Definition: A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus.
Synonyms: IL7R RELATED []
CD3delta deficiency
Definition: A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development.
Synonyms: CD3D
CD3epsilon deficiency
Definition: A severe combined immunodeficiency that is an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex.
CD3gamma deficiency
Definition: A severe combined immunodeficiency an autosomal recessive immunodeficiency caused by mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected.
coronin-1A deficiency
Definition: A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs.
reticular dysgenesis
Definition: A severe combined immunodeficiency that is the most severe form of SCID and is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
Synonyms: De Vaal disease
DNA ligase IV deficiency
Definition: A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
Synonyms: LIG4 Syndrome
CD40 ligand deficiency
Definition: A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
Synonyms: X-linked hyper-IgM syndrome
CD40 deficiency
Definition: A combined T cell and B cell immunodeficiency that is caused by mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
Synonyms: type 3 hyper-IgM immunodeficiency
lambda 5 deficiency
Definition: A B cell deficiency that is caused by mutations in the IGLL1 gene. Lambda 5 mutations an cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
immunoglobulin alpha deficiency
Definition: A B cell deficiency that is an autosomal recessive disorder caused by mutation in the IgA (CD79 alpha) antigen receptor.
Synonyms: IgA deficiency
immunoglobulin beta deficiency
Synonyms: IgB deficiency RELATED []
B cell linker protein deficiency
Definition: A hypobammaglobulinemia that is a B cell deficiency caused by a mutation a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.
Synonyms: BLNK deficiency
Good syndrome
Definition: An agammaglobulinemia that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma.
Synonyms: thymoma with hypogammaglobulinemia
autoimmune disease of exocrine system
Definition: An immune system disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. [ls:IEDB]
autoimmune disease of eyes, ear, nose and throat
Definition: A hypersensitivity reaction type II disease of the eyes, ears, nose and throat. [ls:IEDB]
autoimmune disease of gastrointestinal tract
Definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. [ls:IEDB]
autoimmune disease of musculoskeletal system
Definition: An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. [ls:IEDB]
autoimmune disease of peripheral nervous system
Definition: An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. [ls:IEDB]
medical disorder
Definition: A disease that is present at birth due to a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
intrinsic cardiomyopathy
Definition: A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause.
developmental disorder of mental health
Definition: A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development.
specific developmental disorder
Definition: A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.
autoimmune disease of skin and connective tissue
Definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. [ls:IEDB]
pervasive developmental disorder
Definition: A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors.
Synonyms: pervasive development disorder
autism spectrum disorder
Definition: A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
atypical autism
Definition: An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.
Synonyms: PDD NOS
sexual disorder
Definition: A disease of mental health that involves the impairment in normal sexual functioning.
paraphilia disorder
Munchausen by proxy
Definition: A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.
aphasia
Definition: A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.
writing disorder
Definition: A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.
nosophobia
Definition: A specific phobia that involves an irrational fear of contracting a disease.
autoimmune disease of urogenital tract
Definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. [ls:IEDB]
autoimmune disease of blood
Definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. [ls:IEDB]
autoimmune disease of cardiovascular system
Definition: A hypersensitivity reaction type II disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. [ls:IEDB]
neurological disorder
Definition: A physical disorder that is the result of structural, biochemical or electrical abnormalities in the brain or spinal cord, or in the nerves leading to or from them, can result in symptoms such as paralysis, muscle weakness, poor coordination, loss of sensation, seizures, confusion, pain and altered levels of consciousness. [ls:IEDB]
peripheral neuropathy
Definition: A neuropathy that is located_in nerves of the peripheral nervous system.
autonomic peripheral neuropathy
popliteal pterygium syndrome
Definition: An autosomal dominant disease characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It is caused by mutations in the IRF6 gene located in chromosome 1. [ISBN:0-7216-2921-0, PMID:2352260, PMID:4384166, url:http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome, url:https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome]
Synonyms: popliteal web syndrome
hypersensitivity reaction disease
Definition: An immune system disease that is caused by abnormal immune responses.
gluten allergy
Synonyms: gluten allergic reaction
lymphoma
Definition: A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.
Synonyms: lymphoid cancer
non-Hodgkin lymphoma
Definition: A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.
cutaneous T cell lymphoma
Definition: A non-Hodgkin's lymphoma that is caused by a mutation of T cells.
familial juvenile hyperuricemic nephropathy
Definition: A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease.
X-linked sideroblastic anemia
Synonyms: XLSA
sideroblastic anemia with spinocerebellar ataxia
Synonyms: ASAT
pyridoxine-refractory autosomal recessive sideroblastic anemia
pyridoxine-responsive sideroblastic anemia
Pearson syndrome
Definition: A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction.
Synonyms: Pearson Marrow-Pancreas Syndrome
marantic endocarditis
Definition: An endocarditis that results from the deposition of small sterile vegetations on valve leaflets.
Synonyms: non-bacterial thrombotic endocarditis
Bacillus cereus pneumonia
pre-malignant neoplasm
Definition: A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.
benign neoplasm
Definition: A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize.
lymphatic system cancer
Definition: An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue.
ductal carcinoma in situ
estrogen-receptor positive breast cancer
estrogen-receptor negative breast cancer
progesterone-receptor positive breast cancer
progesterone-receptor negative breast cancer
Her2-receptor positive breast cancer
Her2-receptor negative breast cancer
triple-receptor negative breast cancer
breast benign neoplasm
immune system cancer
Definition: An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system.
cell type benign neoplasm
Definition: A benign neoplasm that is classified by the type of cell or tissue from which it is derived.
organ system benign neoplasm
Definition: A benign neoplasm that is classified by the organ system from which it is arising from.
female reproductive organ benign neoplasm
male reproductive organ benign neoplasm
vestibular gland benign neoplasm
endocrine organ benign neoplasm
Definition: An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
central nervous system organ benign neoplasm
cardiovascular organ benign neoplasm
Definition: An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system.
immune system organ benign neoplasm
Definition: An organ system benign neoplasm located_in the immune system organs.
bone benign neoplasm
Definition: A connective tissue benign neoplasm that is located_in bone.
uterine benign neoplasm
sensory organ benign neoplasm
Definition: A nervous system benign neoplasm that is located_in a sensory organ.
thoracic benign neoplasm
Definition: An organ system benign neoplam that is located_in the thoracic cavity.
osteoblastoma
musculoskeletal system benign neoplasm
Definition: An organ system benign neoplasm that is located_in the muscular and skeletal organs.
musculoskeletal system cancer
Definition: An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs.
Synonyms: skeletal system cancer
benign glioma
Definition: A cell type benign neoplasm that has_material_basis_in glial cells.
cartilage cancer
central nervous system primitive neuroectodermal neoplasm
cerebellar medulloblastoma
Definition: A cerebellum cancer that begins in the lower part of the brain on the floor of the skull.
brain meningioma
brain glioma
Definition: A brain cancer that has_material_basis_in glial cells.
Synonyms: lower grade glioma
vulvar benign neoplasm
cervical benign neoplasm
fallopian tube benign neoplasm
ovarian benign neoplasm
vaginal benign neoplasm
nervous system benign neoplasm
Definition: An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system.
sensory system cancer
Definition: A nervous system cancer that is located_in the sensory system.
peritoneal benign neoplasm
Definition: An organ system benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom.
thoracic disease
Definition: A disease of anatomical entity that is located_in the thoracic cavity.
pharynx cancer
Definition: A gastrointestinal system cancer that is located_in the pharynx.
Synonyms: pharynx neoplasm
skeletal system benign neoplasm
integumentary system benign neoplasm
Definition: An organ system benign neoplasm located_in the integumentary system organs.
integumentary system cancer
Definition: An organ system cancer that is located_in the skin, hair and nails.
connective tissue benign neoplasm
Definition: A musculoskeletal system benign neoplasm that is located_in connective tissue.
Synonyms: tumor of the soft tissue
heavy chain disease
Definition: A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains.
alpha chain disease
Definition: A heavy chain disease that results from an overproduction of alpha antibodies (IgA).
Synonyms: Seligmann's disease
gamma heavy chain disease
Definition: A heavy chain disease that results from an overproduction of gamma antibody (IgG).
Synonyms: Franklin's disease
mu chain disease
Definition: A heavy chain disease that results from an overproduction of mu antibody (IgM).
delta chain disease
Definition: A heavy chain disease that results from an overproduction of delta antibody (IgD).
akinetopsia
Definition: An agnosia that is a loss of motion perception.
alexithymia
Definition: An agnosia that is a deficiency in understanding, processing, or describing emotions.
amusia
Definition: An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals.
Synonyms: receptive amusia
anosognosia
Definition: An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments.
apperceptive agnosia
Definition: An agnosia that is a loss of the ability to distinguish visual shapes.
apraxia
Definition: An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities.
associative agnosia
Definition: An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them.
auditory agnosia
Definition: An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal.
autotopagnosia
Definition: An agnosia that is a loss of the ability to orient parts of the body.
color agnosia
Definition: An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it.
cortical deafness
Definition: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.
finger agnosia
Definition: An agnosia that is a loss of the ability to distinguish the fingers on the hand.
form agnosia
Definition: An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details.
integrative agnosia
Definition: An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole.
mirror agnosia
Definition: An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field.
pain agnosia
Definition: An agnosia that is a loss of the ability to perceive and process pain.
Synonyms: analgesia
phonagnosia
Definition: An agnosia that is a loss of the ability to recognize familiar voices.
semantic agnosia
Definition: An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.
simultanagnosia
Definition: An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.
social emotional agnosia
Definition: An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.
Synonyms: expressive agnosia
astereognosia
Definition: An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.
Synonyms: somatosensory agnosia
tactile agnosia
Definition: An agnosia that is a loss of the ability to recognize or identify objects by touch alone.
time agnosia
Definition: An agnosia that is a loss of the ability to comprehend the succession and duration of events.
topographical agnosia
Definition: An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.
verbal auditory agnosia
Definition: An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.
visual agnosia
Definition: An agnosia that is a loss of the ability to visually recognize objects.
visual verbal agnosia
Definition: An agnosia that is a loss of the ability to comprehending the meaning of written words.
diffuse alopecia areata
Definition: An alopecia areata that involves diffuse loss of hair over the whole scalp.
acquired metabolic disease
Definition: A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption.
organic acidemia
Definition: An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
Synonyms: organic aciduria
survival motor neuron spinal muscular atrophy
Definition: A spinal muscular atrophy that is associated with the survival of motor neuron protein.
Synonyms: spinal muscular atrophies of childhood
Kennedy's disease
Definition: A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine)\nin exon 1 of AR gene encoding the androgen receptor.
Synonyms: X-linked Spinal and Bulbar Muscular Atrophy
dentatorubral-pallidoluysian atrophy
Definition: An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
Synonyms: Naito-Oyanagi disease
body dysmorphic disorder
Definition: A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).
Synonyms: dysmorphophobia
pain disorder
Definition: A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.
Kleine-Levin syndrome
Definition: A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
bipolar ll disorder
Definition: A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes.
seasonal affective disorder
Definition: A mental depression that involves presentation of depressive symptoms only during a specific season of the year.
Synonyms: winter depression
histidinemia
Definition: A histidine metabolism disease that involves a deficiency of the enzyme histidase.
Synonyms: histidinuria
benign familial infantile epilepsy
Definition: An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.
Synonyms: BFIE
generalized epilepsy with febrile seizures plus
Definition: An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
Synonyms: GEFS+